Gaucher disease
GlcCer
GlcSph
glucocerebrosidase
inflammation
unfolded protein response
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
09 Sep 2019
09 Sep 2019
Historique:
received:
25
07
2019
revised:
04
09
2019
accepted:
05
09
2019
entrez:
12
9
2019
pubmed:
12
9
2019
medline:
12
9
2019
Statut:
epublish
Résumé
Gaucher disease (GD) results from mutations in the
Identifiants
pubmed: 31505865
pii: jcm8091420
doi: 10.3390/jcm8091420
pmc: PMC6780790
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Israel Science Foundation
ID : 1300/13
Organisme : SHIRE
ID : IIR-ISR-000877
Organisme : Pfizer Pharmaceuticals
ID : WI22427
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Eur J Med Res. 2008 Dec 3;13(12):557-62
pubmed: 19073395
Orphanet J Rare Dis. 2013 Sep 11;8:140
pubmed: 24020503
J Neuroinflammation. 2016 May 12;13(1):104
pubmed: 27175482
Blood Cells Mol Dis. 2011 Jan 15;46(1):4-10
pubmed: 21106416
Mol Genet Metab. 2014 Feb;111(2):163-71
pubmed: 24079945
PLoS Genet. 2016 Mar 28;12(3):e1005944
pubmed: 27019408
Hum Mol Genet. 2015 Dec 1;24(23):6675-86
pubmed: 26362253
Ann Clin Transl Neurol. 2016 Feb 02;3(3):200-15
pubmed: 27042680
Hum Mol Genet. 2005 Aug 15;14(16):2387-98
pubmed: 16000318
Intensive Care Med. 2004 Jan;30(1):133-40
pubmed: 14504727
Science. 2009 Jul 24;325(5939):473-7
pubmed: 19556463
Brain. 2012 Jun;135(Pt 6):1724-35
pubmed: 22566609
Biochimie. 2017 Jul;138:156-167
pubmed: 28478109
Ann Neurol. 2008 Nov;64(5):514-22
pubmed: 19067373
Blood. 2011 Oct 20;118(16):e118-27
pubmed: 21868580
Aging Cell. 2016 Feb;15(1):77-88
pubmed: 26486234
Proc Natl Acad Sci U S A. 2013 May 7;110(19):E1752-60
pubmed: 23613578
J Neurochem. 1982 Sep;39(3):709-18
pubmed: 7097276
J Biol Chem. 2009 Aug 28;284(35):23502-16
pubmed: 19578116
Genome Biol. 2014;15(12):550
pubmed: 25516281
Annu Rev Biochem. 1985;54:631-64
pubmed: 3896128
Turk J Haematol. 2015 Jun;32(2):187-8
pubmed: 26316492
Agents Actions. 1990 Nov;31(3-4):275-9
pubmed: 2085143
Clin Chim Acta. 2017 Mar;466:178-184
pubmed: 28089753
J Biol Chem. 1957 May;226(1):497-509
pubmed: 13428781
Biochem Biophys Res Commun. 1965 Jan 18;18:221-5
pubmed: 14282020
Baillieres Clin Haematol. 1997 Dec;10(4):691-709
pubmed: 9497858
Biochim Biophys Acta. 2013 Sep;1831(9):1475-85
pubmed: 23770033
Blood Cells Mol Dis. 2015 Apr;54(4):307-14
pubmed: 25842368
Am J Clin Pathol. 1979 Feb;71(2):146-50
pubmed: 425932
Autophagy. 2016;12(3):484-98
pubmed: 26761346
EMBO Rep. 2003 Jul;4(7):704-9
pubmed: 12792654
N Engl J Med. 2004 Nov 4;351(19):1972-7
pubmed: 15525722
J Neurosci. 2016 Nov 16;36(46):11654-11670
pubmed: 27852774
Blood. 1992 Apr 1;79(7):1662-6
pubmed: 1558964
Gene. 2017 May 30;614:49-55
pubmed: 28286087
Compr Ther. 1980 Jul;6(7):65-8
pubmed: 7471682
J Clin Invest. 1994 Mar;93(3):1288-92
pubmed: 8132768
Mol Genet Metab. 2002 Aug;76(4):262-70
pubmed: 12208131
Hum Mol Genet. 2015 Dec 1;24(23):6640-52
pubmed: 26376862
Dis Model Mech. 2016 Mar;9(3):235-44
pubmed: 26935102
Expert Rev Proteomics. 2016 May;13(5):471-9
pubmed: 27098312
Hum Mol Genet. 2011 Apr 1;20(7):1375-86
pubmed: 21252206
Bioinformatics. 2013 Jan 1;29(1):15-21
pubmed: 23104886
Blood. 2004 Jan 1;103(1):33-9
pubmed: 12969956
Proc Natl Acad Sci U S A. 2012 Jun 19;109(25):10018-23
pubmed: 22665763
Sci Rep. 2015 Jun 05;5:10903
pubmed: 26045184
PLoS One. 2013 Nov 20;8(11):e79732
pubmed: 24278166
PLoS One. 2013 Aug 02;8(8):e69147
pubmed: 23936319
Hum Mutat. 2016 Nov;37(11):1121-1136
pubmed: 27449603
Am J Clin Pathol. 2004 Sep;122(3):359-69
pubmed: 15362365
Front Cell Infect Microbiol. 2014 Jan 09;3:113
pubmed: 24409421
Brain Dev. 2013 Apr;35(4):317-22
pubmed: 22682976
Dis Model Mech. 2011 Nov;4(6):746-52
pubmed: 21954067
Mol Genet Metab. 2012 Jul;106(3):323-9
pubmed: 22592100
Biochim Biophys Acta. 2014 May;1841(5):811-25
pubmed: 24239767
Hum Mutat. 1998;12(4):240-4
pubmed: 9744474
PLoS Genet. 2015 Apr 02;11(4):e1005065
pubmed: 25835295
Clin Chem. 2007 Apr;53(4):742-7
pubmed: 17332150
Nature. 2003 Nov 6;426(6962):33-8
pubmed: 14603309
Nat Chem Biol. 2010 Dec;6(12):907-13
pubmed: 21079602
Hum Mutat. 2012 Oct;33(10):1398-407
pubmed: 22623374
Hum Mutat. 2008 May;29(5):567-83
pubmed: 18338393
EMBO J. 2007 Jan 10;26(1):242-52
pubmed: 17170705
Am J Med Genet. 1997 Nov 28;73(1):41-7
pubmed: 9375921
Biochem J. 2012 Jun 15;444(3):383-94
pubmed: 22448906
Gene. 1993 Jun 30;128(2):155-63
pubmed: 8514184
Neurobiol Dis. 2019 Jul;127:563-569
pubmed: 30981829
J Biol Chem. 1996 Nov 1;271(44):27280-4
pubmed: 8910302
Nat Protoc. 2010 Jan;5(1):20-5
pubmed: 20010724